ClinVar Miner

List of variants reported as likely pathogenic for hereditary spastic paraplegia 4 by Neurogenetics Laboratory, Gh Pitie Salpetriere Aphp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NC_000002.11:g.(32289091_32312562)_(32958959_32999928)del
NM_014946.4(SPAST):c.1413+1_1413+2del rs1679558544
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.67_85dup (p.Leu29fs) rs1676388641

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